A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2075444



Internal ID17402158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10399799..10401612hg38UCSC Ensembl
Innerchr17:10303116..10304929hg19UCSC Ensembl
Innerchr17:10243841..10245654hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381814
hg191814
hg181814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960051
Supporting Variants
SamplesHGDP00521
Known GenesMYH8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2075444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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